title: Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case-control study.
abstract: The purpose of the present study was to identify mitochondrial DNA (mtDNA) polymorphisms and rare variants that associate with elite Japanese athletic status. Subjects comprised 185 elite Japanese athletes who had represented Japan at international competitions (that is, 100 endurance/middle-power athletes: EMA; 85 sprint/power athletes: SPA) and 672 Japanese controls (CON). The entire mtDNA sequences (16 569 bp) were analyzed by direct sequencing. Nucleotide variants were detected at 1488 sites in the 857 entire mtDNA sequences. A total of 311 variants were polymorphisms (minor allele frequency 1% in CON), and the frequencies of these polymorphisms were compared among the three groups. The EMA displayed excess of seven polymorphisms, including subhaplogroup D4e2- and D4g-specific polymorphisms, compared with CON (P<0.05), whereas SPA displayed excess of three polymorphisms and dearth of nine polymorphisms, including haplogroup G- and subhaplogroup G2a-specific polymorphisms, compared with CON (P<0.05). The frequencies of 10 polymorphisms, including haplogroup G- and subhaplogroup G2a-specific polymorphisms, were different between EMA and SPA (P<0.05): although none of these polymorphisms differed significantly between groups after correcting for multiple comparison (false discovery rate q-value 0.05). The number of rare variants in the 12S ribosomal RNA and NADH dehydrogenase subunit I genes were also higher in SPA than in CON (P<0.05). Analysis of the entire mtDNA of elite Japanese athletes revealed several haplogroup- and subhaplogroup-specific polymorphisms to be potentially associated with elite Japanese athletic status.
authors.affiliation: 1] Graduate School of Sport Sciences, Waseda University, Saitama, Japan [2] Japan Society for the Promotion of Science, Tokyo, Japan [3] Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.
authors.forename: Eri
authors.initials: E
authors.lastname: Mikami
authors.affiliation: Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Fuku
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
authors.forename: Qing-Peng
authors.initials: QP
authors.lastname: Kong
authors.affiliation: Department of Sports Sciences, Japan Institute of Sports Sciences, Tokyo, Japan.
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Takahashi
authors.affiliation: Department of Sports Sciences, Japan Institute of Sports Sciences, Tokyo, Japan.
authors.forename: Nao
authors.initials: N
authors.lastname: Ohiwa
authors.affiliation: Department of Health Promotion and Exercise, National Institute of Health and Nutrition, Tokyo, Japan.
authors.forename: Haruka
authors.initials: H
authors.lastname: Murakami
authors.affiliation: Department of Health Promotion and Exercise, National Institute of Health and Nutrition, Tokyo, Japan.
authors.forename: Motohiko
authors.initials: M
authors.lastname: Miyachi
authors.affiliation: Faculty of Sport Sciences, Waseda University, Saitama, Japan.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Higuchi
authors.affiliation: Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Tanaka
authors.affiliation: College of Medicine, Veterinary and Life Sciences, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK.
authors.forename: Yannis P
authors.initials: YP
authors.lastname: Pitsiladis
authors.affiliation: Department of Sports Medicine, Japan Institute of Sports Sciences, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kawahara
mesh_terms: D044466:Asian People / Q000235:genetics*; D056352:Athletes; D054874:Athletic Performance / Q000502:physiology*; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D004272:DNA, Mitochondrial